497 Genetic variability of viral and human genomes in a large cohort of patients with typical epidermodysplasia verruciformis

Abstract

Cutaneous human papillomavirus (HPV) infection typically manifests with isolated warts. However, some patients in familial clustering develop extensive and protracted HPV infections, primarily the β-HPV types 5 and 8, with distinct cutaneous findings. This clinical entity, epidermodysplasia verruciformis (EV), with autosomal recessive inheritance, is characterized by numerous cutaneous flat warts in childhood, which progress into squamous cell carcinomas later in life. The “typical” form of EV, not vulnerable to other infections, is caused by mutations in CIB1, TMC6, or TMC8, which impair keratinocyte-intrinsic immunity to β-HPV infection.